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See other CTNS CNV Assays ›
Gene Symbol
CTNS
Assay Reference Genome
Location

Chr.17:3650291 on build GRCh38
Cytoband
17p13.2
Assay ID Hs03971382_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 1497

Gene Name:

 cystinosin, lysosomal cystine transporter

Gene Aliases:

 CTNS-LSB, PQLC4

Location:

 Chr.17:3636391-3663103 on Build GRCh38

Assay Gene Location:

 Within Intron 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CTNS NM_001031681.2 NP_001026851.2
NM_004937.2 NP_004928.2
XM_005256485.2 XP_005256542.1
XM_006721463.2 XP_006721526.1
XM_006721464.2 XP_006721527.1
XM_011523691.2 XP_011521993.1
XM_011523692.2 XP_011521994.1
XM_017024254.1 XP_016879743.1
XM_017024255.1 XP_016879744.1
XM_017024256.1 XP_016879745.1
XM_017024257.1 XP_016879746.1
XM_017024258.1 XP_016879747.1
AJ222967.1 CAA11021.1
AK292019.1
AK296178.1
AK297525.1
AK309044.1
AK309651.1
BC032850.2 AAH32850.1
CR542058.1 CAG46855.1
KU178003.1
KU178004.1
KU178005.1
KU178006.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv3085n100 Chr.17:3595117 - 3665113 on Build GRCh38 Loss TAX1BP3 TRPV1 CTNS SHPK P2RX5-TAX1BP3
esv3639752 Chr.17:3601104 - 3658235 on Build GRCh38 Loss TRPV1 CTNS SHPK
dgv882e212 Chr.17:3585851 - 3654158 on Build GRCh38 Loss TRPV1 CTNS SHPK
nsv1055740 Chr.17:3381841 - 3890153 on Build GRCh38 Gain CTNS OR3A3 P2RX5 SHPK GSG2 ASPA SPATA22 ITGAE P2RX5-TAX1BP3 EMC6 OR1E2 NCBP3 TAX1BP3 TRPV3 TRPV1 CAMKK1 OR3A2 OR1E1
esv3572354 Chr.17:3528675 - 3654158 on Build GRCh38 Gain TRPV3 TRPV1 CTNS SHPK
esv2762588 Chr.17:3602274 - 3654159 on Build GRCh38 Loss TRPV1 CTNS SHPK
nsv1947 Chr.17:3641882 - 3673842 on Build GRCh38 Insertion TAX1BP3 CTNS P2RX5 P2RX5-TAX1BP3 EMC6
dgv5423n54 Chr.17:3601261 - 3665107 on Build GRCh38 Loss TAX1BP3 TRPV1 CTNS SHPK P2RX5-TAX1BP3
nsv952107 Chr.17:3640507 - 3691806 on Build GRCh38 Deletion TAX1BP3 CTNS P2RX5 P2RX5-TAX1BP3 EMC6
nsv516676 Chr.17:3553441 - 3652130 on Build GRCh38 Gain+Loss TRPV3 TRPV1 CTNS SHPK
nsv574237 Chr.17:3486822 - 3729542 on Build GRCh38 Loss TAX1BP3 TRPV3 TRPV1 CTNS P2RX5 SHPK GSG2 ASPA SPATA22 ITGAE P2RX5-TAX1BP3 EMC6
nsv1065489 Chr.17:2631416 - 3948349 on Build GRCh38 Gain OR3A3 P2RX5 SHPK GSG2 ASPA OR1D4 LOC101927911 OR1D2 OR1E2 OR1D5 NCBP3 TAX1BP3 TRPV3 CLUH TRPV1 CAMKK1 OR3A4P OR1G1 PAFAH1B1 OR1A1 P2RX1 RAP1GAP2 CTNS MIR1253 OR1A2 LOC105371591 SPATA22 ITGAE P2RX5-TAX1BP3 EMC6 LOC105371592 OR3A2 CCDC92B OR3A1 MIR6776 OR1E1 ATP2A3
esv2662762 Chr.17:3601001 - 3658179 on Build GRCh38 Deletion TRPV1 CTNS SHPK
nsv833342 Chr.17:3626188 - 3806082 on Build GRCh38 Loss TAX1BP3 CTNS P2RX5 SHPK GSG2 ITGAE P2RX5-TAX1BP3 EMC6
dgv358n27 Chr.17:3601921 - 3664167 on Build GRCh38 Loss TAX1BP3 TRPV1 CTNS SHPK P2RX5-TAX1BP3

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More Information


Additional Information:

For this assay, SNP(s) [rs114724281] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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